Incidental Mutation 'R4370:Slc38a4'
ID |
325970 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc38a4
|
Ensembl Gene |
ENSMUSG00000022464 |
Gene Name |
solute carrier family 38, member 4 |
Synonyms |
Ata3, SNAT4, 1700012A18Rik, 1110012E16Rik |
MMRRC Submission |
041674-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R4370 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
96892701-96953837 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 96906965 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 258
(N258Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155158
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023101]
[ENSMUST00000166223]
[ENSMUST00000230086]
[ENSMUST00000230907]
[ENSMUST00000231039]
|
AlphaFold |
Q8R1S9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023101
AA Change: N258Y
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000023101 Gene: ENSMUSG00000022464 AA Change: N258Y
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
73 |
263 |
4.9e-38 |
PFAM |
Pfam:Aa_trans
|
302 |
535 |
2.1e-45 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166223
AA Change: N258Y
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127676 Gene: ENSMUSG00000022464 AA Change: N258Y
Domain | Start | End | E-Value | Type |
Pfam:Aa_trans
|
73 |
262 |
2.5e-38 |
PFAM |
Pfam:Aa_trans
|
303 |
535 |
2.5e-45 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230086
AA Change: N258Y
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230907
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231039
AA Change: N258Y
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acoxl |
T |
A |
2: 127,720,708 (GRCm39) |
D190E |
possibly damaging |
Het |
Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
Armc2 |
A |
T |
10: 41,793,196 (GRCm39) |
N809K |
probably benign |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bmal2 |
A |
T |
6: 146,711,149 (GRCm39) |
E51V |
probably damaging |
Het |
Cage1 |
G |
A |
13: 38,209,626 (GRCm39) |
S11F |
probably damaging |
Het |
Car15 |
T |
C |
16: 17,653,299 (GRCm39) |
I289M |
probably damaging |
Het |
Cdhr18 |
C |
T |
14: 13,862,375 (GRCm38) |
S393N |
probably benign |
Het |
Cfap100 |
A |
T |
6: 90,390,376 (GRCm39) |
I242N |
probably damaging |
Het |
Dst |
GAA |
GA |
1: 34,290,809 (GRCm39) |
|
probably null |
Het |
Epdr1 |
C |
A |
13: 19,803,576 (GRCm39) |
V53F |
probably benign |
Het |
Igfn1 |
A |
G |
1: 135,895,844 (GRCm39) |
M1574T |
probably benign |
Het |
Kat6a |
T |
C |
8: 23,401,945 (GRCm39) |
I438T |
possibly damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Krtap4-7 |
G |
A |
11: 99,534,543 (GRCm39) |
P107S |
unknown |
Het |
Lrp6 |
A |
C |
6: 134,483,321 (GRCm39) |
Y461* |
probably null |
Het |
Mecom |
T |
A |
3: 30,011,504 (GRCm39) |
E723V |
probably damaging |
Het |
Nsd3 |
T |
A |
8: 26,138,524 (GRCm39) |
I258N |
probably benign |
Het |
Or10q12 |
T |
C |
19: 13,746,315 (GRCm39) |
V203A |
probably benign |
Het |
Or5k8 |
T |
A |
16: 58,644,956 (GRCm39) |
M39L |
probably benign |
Het |
Or8k32 |
A |
T |
2: 86,368,764 (GRCm39) |
I165N |
possibly damaging |
Het |
Rb1cc1 |
A |
G |
1: 6,318,771 (GRCm39) |
D730G |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,449,758 (GRCm39) |
R3935G |
probably damaging |
Het |
Setd5 |
A |
G |
6: 113,098,766 (GRCm39) |
K800E |
probably damaging |
Het |
Slc26a4 |
G |
T |
12: 31,579,475 (GRCm39) |
Q596K |
probably benign |
Het |
Sntb1 |
A |
G |
15: 55,655,487 (GRCm39) |
I243T |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,443,282 (GRCm39) |
S2051G |
probably null |
Het |
Sys1 |
T |
C |
2: 164,303,315 (GRCm39) |
W10R |
probably damaging |
Het |
Tgm2 |
G |
A |
2: 157,966,221 (GRCm39) |
R478* |
probably null |
Het |
Tgm6 |
T |
C |
2: 129,985,525 (GRCm39) |
Y443H |
probably benign |
Het |
Tor2a |
T |
A |
2: 32,648,870 (GRCm39) |
D113E |
probably benign |
Het |
Trio |
C |
A |
15: 27,748,423 (GRCm39) |
E1266* |
probably null |
Het |
Usp40 |
T |
C |
1: 87,925,597 (GRCm39) |
I211V |
probably benign |
Het |
Zfp791 |
C |
T |
8: 85,840,235 (GRCm39) |
V11M |
probably damaging |
Het |
|
Other mutations in Slc38a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00090:Slc38a4
|
APN |
15 |
96,917,690 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00229:Slc38a4
|
APN |
15 |
96,897,375 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00974:Slc38a4
|
APN |
15 |
96,897,397 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01951:Slc38a4
|
APN |
15 |
96,917,644 (GRCm39) |
missense |
probably benign |
0.07 |
R0012:Slc38a4
|
UTSW |
15 |
96,897,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R0012:Slc38a4
|
UTSW |
15 |
96,897,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R0165:Slc38a4
|
UTSW |
15 |
96,906,830 (GRCm39) |
missense |
probably benign |
0.00 |
R0304:Slc38a4
|
UTSW |
15 |
96,906,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R0543:Slc38a4
|
UTSW |
15 |
96,914,720 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0973:Slc38a4
|
UTSW |
15 |
96,903,739 (GRCm39) |
missense |
probably benign |
0.04 |
R0973:Slc38a4
|
UTSW |
15 |
96,903,739 (GRCm39) |
missense |
probably benign |
0.04 |
R0974:Slc38a4
|
UTSW |
15 |
96,903,739 (GRCm39) |
missense |
probably benign |
0.04 |
R1340:Slc38a4
|
UTSW |
15 |
96,908,153 (GRCm39) |
splice site |
probably benign |
|
R1973:Slc38a4
|
UTSW |
15 |
96,897,478 (GRCm39) |
missense |
probably benign |
0.36 |
R2058:Slc38a4
|
UTSW |
15 |
96,906,606 (GRCm39) |
missense |
probably benign |
0.22 |
R2083:Slc38a4
|
UTSW |
15 |
96,906,874 (GRCm39) |
missense |
probably benign |
0.00 |
R2108:Slc38a4
|
UTSW |
15 |
96,906,878 (GRCm39) |
missense |
probably benign |
|
R3908:Slc38a4
|
UTSW |
15 |
96,910,875 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4037:Slc38a4
|
UTSW |
15 |
96,894,923 (GRCm39) |
missense |
probably benign |
0.03 |
R4259:Slc38a4
|
UTSW |
15 |
96,896,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R4260:Slc38a4
|
UTSW |
15 |
96,896,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R4261:Slc38a4
|
UTSW |
15 |
96,896,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R4435:Slc38a4
|
UTSW |
15 |
96,906,899 (GRCm39) |
missense |
probably benign |
|
R5289:Slc38a4
|
UTSW |
15 |
96,908,229 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5638:Slc38a4
|
UTSW |
15 |
96,910,871 (GRCm39) |
missense |
probably damaging |
0.99 |
R5893:Slc38a4
|
UTSW |
15 |
96,897,432 (GRCm39) |
missense |
probably benign |
0.23 |
R7059:Slc38a4
|
UTSW |
15 |
96,906,895 (GRCm39) |
nonsense |
probably null |
|
R7223:Slc38a4
|
UTSW |
15 |
96,908,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R7267:Slc38a4
|
UTSW |
15 |
96,903,781 (GRCm39) |
missense |
probably benign |
0.01 |
R7768:Slc38a4
|
UTSW |
15 |
96,906,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R7903:Slc38a4
|
UTSW |
15 |
96,906,809 (GRCm39) |
missense |
probably benign |
0.03 |
R8314:Slc38a4
|
UTSW |
15 |
96,908,190 (GRCm39) |
missense |
probably benign |
0.10 |
R8385:Slc38a4
|
UTSW |
15 |
96,897,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R8822:Slc38a4
|
UTSW |
15 |
96,906,952 (GRCm39) |
missense |
probably benign |
0.12 |
R8955:Slc38a4
|
UTSW |
15 |
96,914,662 (GRCm39) |
missense |
probably benign |
|
R8962:Slc38a4
|
UTSW |
15 |
96,917,684 (GRCm39) |
missense |
probably benign |
0.00 |
R9000:Slc38a4
|
UTSW |
15 |
96,897,475 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9043:Slc38a4
|
UTSW |
15 |
96,906,805 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9760:Slc38a4
|
UTSW |
15 |
96,896,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R9786:Slc38a4
|
UTSW |
15 |
96,906,378 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCATTTCTCAGCACCCTG -3'
(R):5'- CCCGGTAGTCTAAGCAAATCC -3'
Sequencing Primer
(F):5'- AGCACCCTGGGCTTCGTAC -3'
(R):5'- CTCAAAGCTTGACGGGTT -3'
|
Posted On |
2015-07-06 |